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1217225001: Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5035187012 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5035188019 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Congenital anomaly of skeletal muscle true Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Bone structure of cervical vertebra true Inferred relationship Existential restriction modifier 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Existential restriction modifier 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Klippel-Feil sequence true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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